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rs121918036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918036(A;G)
Make rs121918036(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129061849
GeneGP9
is asnp
is mentioned by
dbSNPrs121918036
dbSNP (classic)rs121918036
ClinGenrs121918036
ebirs121918036
HLIrs121918036
Exacrs121918036
Gnomadrs121918036
Varsomers121918036
LitVarrs121918036
Maprs121918036
PheGenIrs121918036
Biobankrs121918036
1000 genomesrs121918036
hgdprs121918036
ensemblrs121918036
geneviewrs121918036
scholarrs121918036
googlers121918036
pharmgkbrs121918036
gwascentralrs121918036
openSNPrs121918036
23andMers121918036
SNPshotrs121918036
SNPdbers121918036
MSV3drs121918036
GWAS Ctlgrs121918036
Max Magnitude0
OMIM173515
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918036(G;G)
Alt rs121918036(G;G)
Reference Rs121918036(A;A)
Significance Pathogenic
Disease Bernard-Soulier syndrome type C
Variation info
Gene GP9
CLNDBN Bernard-Soulier syndrome type C
Reversed 0
HGVS NC_000003.11:g.128780692A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014485.25,